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Gajja S Salomons

Showing results (1-10 of 197) with videos related to

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Pediatric Neurology|April 29, 2014
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoateSaadet Mercimek-Mahmutoglu, Gajja S Salomons, Alicia Chan
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 20, 2005
Laboratory diagnosis of defects of creatine biosynthesis and transportNanda M Verhoeven, Gajja S Salomons, Cornelis Jakobs
Sub-Cellular Biochemistry|July 26, 2008
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiologySylvia Stockler, Peter W Schutz, Gajja S Salomons
Journal of Inherited Metabolic Disease|January 17, 2014
Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acidEduard A Struys, Erwin E W Jansen, Gajja S Salomons
Gene|June 3, 2008
Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter geneCristina Martínez-Muñoz, Efraim H Rosenberg, Cornelis Jakobs, et al.
Journal of Child Neurology|September 5, 2006
Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduriaCéline Lee, Mark Born, Gajja S Salomons, et al.
Pediatric Neurology|December 27, 2011
Phenotypic variability in a portuguese family with x-linked creatine transport deficiencyPaula Garcia, Fidjy Rodrigues, Carla Valongo, et al.
Journal of Inherited Metabolic Disease|May 3, 2014
X-linked creatine transporter deficiency: clinical aspects and pathophysiologyJiddeke M van de Kamp, Grazia M Mancini, Gajja S Salomons
Journal of Inherited Metabolic Disease|May 2, 2024
Disorders of fatty acid homeostasisFrédéric M Vaz, Sacha Ferdinandusse, Gajja S Salomons, et al.
American Journal of Medical Genetics. Part A|July 6, 2010
Creatine transporter deficiency in two half-brothersOrly Ardon, Cristina Amat di San Filippo, Gajja S Salomons, et al.
Pageof 20

Showing results (1-10 of 197) with videos related to

Sort By:
Pageof 20
Pediatric Neurology|April 29, 2014
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoateSaadet Mercimek-Mahmutoglu, Gajja S Salomons, Alicia Chan
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 20, 2005
Laboratory diagnosis of defects of creatine biosynthesis and transportNanda M Verhoeven, Gajja S Salomons, Cornelis Jakobs
Sub-Cellular Biochemistry|July 26, 2008
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiologySylvia Stockler, Peter W Schutz, Gajja S Salomons
Journal of Inherited Metabolic Disease|January 17, 2014
Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ(1)-piperideine-6-carboxylate generating L-pipecolic acidEduard A Struys, Erwin E W Jansen, Gajja S Salomons
Gene|June 3, 2008
Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter geneCristina Martínez-Muñoz, Efraim H Rosenberg, Cornelis Jakobs, et al.
Journal of Child Neurology|September 5, 2006
Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduriaCéline Lee, Mark Born, Gajja S Salomons, et al.
Pediatric Neurology|December 27, 2011
Phenotypic variability in a portuguese family with x-linked creatine transport deficiencyPaula Garcia, Fidjy Rodrigues, Carla Valongo, et al.
Journal of Inherited Metabolic Disease|May 3, 2014
X-linked creatine transporter deficiency: clinical aspects and pathophysiologyJiddeke M van de Kamp, Grazia M Mancini, Gajja S Salomons
Journal of Inherited Metabolic Disease|May 2, 2024
Disorders of fatty acid homeostasisFrédéric M Vaz, Sacha Ferdinandusse, Gajja S Salomons, et al.
American Journal of Medical Genetics. Part A|July 6, 2010
Creatine transporter deficiency in two half-brothersOrly Ardon, Cristina Amat di San Filippo, Gajja S Salomons, et al.
Pageof 20